Varaico: Literature-Extracted Genetic Variants

TLR1

494 papers

RefSeq Summary

The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved ...

Pfam Domains

LRR_8aa 69–126UCSCLeucine rich repeat

LRR_8aa 445–502UCSCLeucine rich repeat

LRRCTaa 553–578UCSCLeucine rich repeat C-terminal domain

TIRaa 636–786UCSCTIR domain

Gene Aliases

HGNC Name

toll like receptor 1

HGNC Alias Symbols

rsc786; KIAA0012; CD281

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003263.4

p.K70R

c.209A>G

Surrounding Variants

1 paper

NM_003263.4

p.L71R

c.212T>G

1 paper

NM_003263.4

p.L71P

c.212T>C

1 paper

NM_003263.4

p.S69*

c.206C>G

1 paper

NM_003263.4

p.S69*

c.206C>A

1 paper

NM_003263.4

p.L71L

c.213G>A

1 paper

NM_003263.4

p.L68R

c.203T>G

1 paper

NM_003263.4

p.R72T

c.215G>C

1 paper

NM_003263.4

p.L68L

c.202C>T

1 paper

NM_003263.4

p.L74L

c.222G>A

1 paper

NM_003263.4

p.I65I

c.195C>T

1 paper

NM_003263.4

p.I65S

c.194T>G

2 papers

NM_003263.4

p.I75T

c.224T>C